Gene: LOC105369689

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: LDHB

Alternate names for this Gene: HEL-S-281|LDH-B|LDH-H|LDHBD|TRG-5

Gene Summary: This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: lactate dehydrogenase B

Type of Gene: protein-coding

rs11046170 in LOC105369689;LDHB gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.